REAL

A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene

Gulácsy, Vera and Soltész, Beáta and Petrescu, Carmen and Bataneant, Mihaela and Gyimesi, Edit and Serban, Margit and Maródi, László and Tóth, Beáta (2015) A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene. European Journal of Haematology, 95 (1). pp. 93-98. ISSN 0902-4441, ESSN: 1600-0609

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Abstract

Deletion mutations of WAS are relatively rare and the precise localization of large deletions in the genome has rarely been described in previous studies. We report here a five-months-old boy with a large deletion mutation in WAS that completely abolished protein expression. In order to localize the deletion, a 2816 bp-length sequence that spans between exons 9 and 12 was amplified. PCR amplification of the patient's sample revealed a single band of about 1 kb in contrast to the 2816 bp amplicon in the control. Genomic DNA sequencing of the patient revealed a 1595 bp deletion and an adenine insertion (g.5247_6841del1595insA). This large deletion of WAS resulted in partial loss of exon 10 and intron 11, and a complete loss of intron 10 and exon 11. This article is protected by copyright. All rights reserved.

Item Type: Article
Uncontrolled Keywords: Wiskott–Aldrich syndrome; WAS gene; InDel; gross deletions
Subjects: R Medicine / orvostudomány > RJ Pediatrics / gyermekgyógyászat
Depositing User: Dr Beáta Lajszné Tóth
Date Deposited: 22 Sep 2014 07:27
Last Modified: 03 Apr 2023 08:15
URI: http://real.mtak.hu/id/eprint/15759

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